The Niemann-Pick disease is a group of lysosome storage diseases that affect metabolism. These types of diseases are generally caused by genetic mutations. The most common types of the Niemann-Pick diseases are Type A and Type B (ASMD or Acid Sphingomyelinase Deficiency) and Type C (NPC). A severe form of the disease is in early childhood and involves metabolism that is not functioning correctly of sphingolipids (fats found in cell membranes). This disease stops the body from making enzymes, sphingomyelinase, which breaks down lipids. Some of the common symptoms of the Niemann-Pick Disease in general are enlarged liver and spleen, not having an appetite, and pain. Bones can also be affected by this by the bone marrow enlarged cavities, thinned cortical bone, and hip bone alignment.
Type A and Type B:
The Niemann-Pick Types A and B are caused by the deficiency of a specific enzyme, which is known as Acid Sphingomyelinase. It is found in places within lysosomes. The enzyme is required to metabolize the lipid, which is called sphingomyelin. If ASM is missing or simply not working correctly, it cannot be metabolized which will eventually cause the cell to die and also cause other malfunctions. Types A and B are both caused by the same deficiency. People with Type A typically do not have ASM production. People with Type B have up to 10% of normal level of ASM. The clinical treatment for patients with Type A and Type B is very different. Type A is a very serious mind disease that normally leads to and early death (2-4 years of age). On the other hand, Type B has little to no involvement to the mind, which makes it possible for people with this disease to live into their adulthood. Although it is not as serious as Type A, there are still health complications to watch for such as enlarged livers and spleens and respiratory problems.
Type C:
Type C is very different from both A and B. People with Type C are not able to metabolize cholesterol and other lipids the way they are supposed to. Type C caused a secondary reduction of ASM which is why all three types are considered to be the same disease, but different forms. People can receive this disease anywhere from a few months of age or late in adulthood. Some of the symptoms can be not being able to move eyes up and down, enlarged liver, enlarged spleen, or jaundice (yellowing of eyes and skin). Type C has been diagnosed as a learning disability, mild retardation, clumsiness, and slow development.
Treatment:
For Type A, there are no specific treatments.
Depending on how serious the Type B, doctors try to keep cholesterol levels normal and give patients more blood and oxygen. Sometimes, patients will have to also go to therapy.
To treat Type C, patients recently have been give the drug Zavesca.
Table of Contents
Description:
The Niemann-Pick disease is a group of lysosome storage diseases that affect metabolism. These types of diseases are generally caused by genetic mutations. The most common types of the Niemann-Pick diseases are Type A and Type B (ASMD or Acid Sphingomyelinase Deficiency) and Type C (NPC). A severe form of the disease is in early childhood and involves metabolism that is not functioning correctly of sphingolipids (fats found in cell membranes). This disease stops the body from making enzymes, sphingomyelinase, which breaks down lipids.
Some of the common symptoms of the Niemann-Pick Disease in general are enlarged liver and spleen, not having an appetite, and pain. Bones can also be affected by this by the bone marrow enlarged cavities, thinned cortical bone, and hip bone alignment.
Type A and Type B:
The Niemann-Pick Types A and B are caused by the deficiency of a specific enzyme, which is known as Acid Sphingomyelinase. It is found in places within lysosomes. The enzyme is required to metabolize the lipid, which is called sphingomyelin. If ASM is missing or simply not working correctly, it cannot be metabolized which will eventually cause the cell to die and also cause other malfunctions.
Types A and B are both caused by the same deficiency. People with Type A typically do not have ASM production. People with Type B have up to 10% of normal level of ASM. The clinical treatment for patients with Type A and Type B is very different. Type A is a very serious mind disease that normally leads to and early death (2-4 years of age). On the other hand, Type B has little to no involvement to the mind, which makes it possible for people with this disease to live into their adulthood. Although it is not as serious as Type A, there are still health complications to watch for such as enlarged livers and spleens and respiratory problems.
Type C:
Type C is very different from both A and B. People with Type C are not able to metabolize cholesterol and other lipids the way they are supposed to. Type C caused a secondary reduction of ASM which is why all three types are considered to be the same disease, but different forms.
People can receive this disease anywhere from a few months of age or late in adulthood. Some of the symptoms can be not being able to move eyes up and down, enlarged liver, enlarged spleen, or jaundice (yellowing of eyes and skin). Type C has been diagnosed as a learning disability, mild retardation, clumsiness, and slow development.
Treatment:
For Type A, there are no specific treatments.
Depending on how serious the Type B, doctors try to keep cholesterol levels normal and give patients more blood and oxygen. Sometimes, patients will have to also go to therapy.
To treat Type C, patients recently have been give the drug Zavesca.
Name:
2-hydroxypropyl-β-cyclodextrin or HPbCD
Video:
https://www.youtube.com/watch?v=ME-LFneuDZk
https://www.youtube.com/watch?v=QuY3uARTCdw
Works Cited:
http://www.nnpdf.org/npdisease_01.html
[[http://en.wikipedia.org/wiki/Niemann–Pick_disease]]